Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495165_54495166dup , CM000685.2:g.54495165_54495166dup | GRCh38 |
| NC_000023.10:g.54521598_54521599dup , CM000685.1:g.54521598_54521599dup | GRCh37 |
| NC_000023.9:g.54538323_54538324dup | NCBI36 |
| NG_008054.1:g.6003_6004dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.269_270dup MANE Select | ENSP00000364277.3:p.Phe91AlafsTer? | |
| ENST00000375135.3:c.269_270dup | ENSP00000364277.3:p.Phe91AlafsTer? | |
| NM_004463.2:c.269_270dup | NP_004454.2:p.Phe91AlafsTer? | |
| NM_004463.3:c.269_270dup MANE Select | NP_004454.2:p.Phe91AlafsTer? |